Research Topics
Genomes and Genes
| Stephen W SchererSummaryAffiliation: The Hospital for Sick Children Country: Canada Publications
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Detail Information
Publications
Human chromosome 7: DNA sequence and biologyStephen W Scherer
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
Science 300:767-72. 2003..This approach enabled the discovery of candidate genes for developmental diseases including autism...
The human metabotropic glutamate receptor 8 (GRM8) gene: a disproportionately large gene located at 7q31.3-q32.1S W Scherer
Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, M5G 1X8, Canada
Genomics 44:232-6. 1997..3-q32.1 bands of chromosome 7. This observation is relevant to the study of Smith-Lemli-Opitz syndrome and an autosomal dominant form of retinitis pigmentosa (RP10), since they map to the same region...- Recent segmental and gene duplications in the mouse genomeJoseph Cheung
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Genome Biol 4:R47. 2003..Here we present a database of recently duplicated regions of the mouse genome found in the mouse genome sequencing consortium (MGSC) February 2002 and February 2003 assemblies... - Challenges and standards in integrating surveys of structural variationStephen W Scherer
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14 701, Ontario M5G 1L7, Canada
Nat Genet 39:S7-15. 2007..From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research... - Human chromosome 7 circa 2004: a model for structural and functional studies of the human genomeStephen W Scherer
The Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mol Genet 13:R303-13. 2004.... - Altered expression and deletion of RMO1 in osteosarcomaKolja Eppert
Fred A Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada
Int J Cancer 114:738-46. 2005..Northern blot analysis indicated that RMO1 mRNA is ubiquitously expressed in tissues except for peripheral blood leukocytes. These data suggest that RMO1 may be a candidate for a protein involved in inhibiting tumor progression... - Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsyHannes Lohi
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada M5G 1X8
Hum Mol Genet 14:2727-36. 2005.... 
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Canada
Psychiatr Genet 18:101-9. 2008..Our aim is to use information from cytogenetic anomalies to identify candidate genes for autism...- Towards a comprehensive structural variation map of an individual human genomeAndy W Pang
Department of Molecular Genetics, University of Toronto, 1 King s College Circle, Toronto, Ontario M5S 1A8, Canada
Genome Biol 11:R52. 2010..It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number variation (CNV) and inversions... - Molecular analysis of a chromosome 4 inversion segregating in a large schizophrenia kindred from Hong KongAlbert K Mensah
Molecular Neuropsychiatry and Development Laboratory, Toronto, Canada
Schizophr Res 95:228-35. 2007..016). This study suggests that the 4q breakpoint regions may harbour a gene that contributes to the illness in the large Hong Kong pedigree, and this 4q25 region should be examined further in other schizophrenia samples... - Structural variation of chromosomes in autism spectrum disorderChristian R Marshall
The Centre for Applied Genomics, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada
Am J Hum Genet 82:477-88. 2008..Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup... - Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18qJohn B Vincent
Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009..While a role for SH3TC2, ADRB2, and HTR4 as putative candidate genes for autism cannot be discounted, a role for the desmocollin genes at the 18q breakpoint should also be considered... - Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assembliesLars Feuk
The Centre for Applied Genomics, Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
PLoS Genet 1:e56. 2005..The finding of at least three novel inversion polymorphisms in humans indicates this type of structural variation may be a more common feature of our genome than previously realized... - Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolutionLayla Parker-Katiraee
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
PLoS Genet 3:e65. 2007..Thus, KLF14 may be the first example of an imprinted transcript undergoing accelerated evolution in the human lineage... - Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11Christian R Marshall
Program in Genetics and Genomic Biology and The Centre for Applied Genomics, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada
Am J Hum Genet 83:106-11. 2008..MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse... - Contribution of SHANK3 mutations to autism spectrum disorderRainald Moessner
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, M5G 1L7, Canada
Am J Hum Genet 81:1289-97. 2007..The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing... - Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genesLeonarda Ianzano
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mutat 26:397. 2005..The database, which currently contains 66 entries is accessible on the World Wide Web (http://projects.tcag.ca/lafora). Entries can be submitted via the curator of the database or via a web-based form... - Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsyLeonarda Ianzano
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
Hum Mutat 23:170-6. 2004.... - Characterization of an autism-associated segmental maternal heterodisomy of the chromosome 15q11-13 regionDorota A Kwasnicka Crawford
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada M5G 1X8
J Autism Dev Disord 37:694-702. 2007..This present case report reinforces the hypothesis that additional copies of this chromosome segment are causally related to autism... - Genome assembly comparison identifies structural variants in the human genomeRazi Khaja
Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada
Nat Genet 38:1413-8. 2006..Our results uncover substantial undescribed variation in humans, highlighting the need for comprehensive annotation strategies to fully interpret genome scanning and personalized sequencing projects... - Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequenceJoseph Cheung
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
Genome Biol 4:R25. 2003..Near-identical segmental duplications present a major challenge to the completion of the human genome sequence. Potential sequence misassignments detected in this study would require additional efforts to resolve... - Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delayDorota A Kwasnicka-Crawford
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Genomics 86:182-94. 2005..The ATP13A4 gene was shown to comprise a 3591-bp transcript encompassing 30 exons spanning 152 kb of the genomic DNA. This study discusses the characterization of ATP13A4 and its possible involvement in speech-language disorder... - Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential geneMohammad M Ghahramani Seno
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
BMC Med Genet 12:45. 2011..Homozygous deletions (or CNV nulls) that are found in the normal population are of particular interest because they may serve to define non-essential genes in human biology... - Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disabilityAbdul Noor
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, Ontario, Canada
Sci Transl Med 2:49ra68. 2010..Thus, our systematic screen of PTCHD1 and its 5' flanking regions suggests that this locus is involved in ~1% of individuals with ASD and intellectual disability... - Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysCandice K Silversides
Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network, Toronto, Ontario, Canada
PLoS Genet 8:e1002843. 2012..Further, the data provide new evidence for dosage sensitive genes in PLXNA2-semaphorin signaling and related developmental processes in human cardiovascular development, consistent with previous animal models... - Subgroup-specific structural variation across 1,000 medulloblastoma genomesPaul A Northcott
Developmental and Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
Nature 488:49-56. 2012..Numerous targetable SCNAs, including recurrent events targeting TGF-β signalling in Group 3, and NF-κB signalling in Group 4, suggest future avenues for rational, targeted therapy... - Methods for identifying and mapping recent segmental and gene duplications in eukaryotic genomesRazi Khaja
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
Methods Mol Biol 338:9-20. 2006..An introduction to bioinformatics tools and programs such as BLAST, Perl, BioPerl, and the GFF specification provides the necessary background to complete this analysis for any eukaryotic genome of interest... - A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genesSanaa Choufani
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Genome Res 21:465-76. 2011.... - Dynamic variation in allele-specific gene expression of Paraoxonase-1 in murine and human tissuesLayla Parker-Katiraee
Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada
Hum Mol Genet 17:3263-70. 2008..This study has important repercussions in the analysis of haplotypes at disease loci, since it implies that the expression of polymorphic alleles can be unequal and dynamic... - A genotype resource for postmortem brain samples from the Autism Tissue ProgramRichard F Wintle
Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Autism Res 4:89-97. 2011..The genotype and CNV data are provided via the ATP informatics portal as a resource for the autism research community... - The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptomsElaine Tam
Department of Medicine, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 146:1797-806. 2008..Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features... - Early-onset Lafora body diseaseJulie Turnbull
Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
Brain 135:2684-98. 2012..The results to date suggest that PRDM8, the early-onset Lafora body disease protein, regulates the cytoplasmic quantities of the Lafora disease enzymes... - Subgroup-specific alternative splicing in medulloblastomaAdrian M Dubuc
Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada
Acta Neuropathol 123:485-99. 2012.... - Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsyElayne M Chan
The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, Toronto, Canada
Hum Mol Genet 13:1117-29. 2004..In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material... - Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndromeShin ichi Horike
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Med Genet A 149:2415-23. 2009..This patient series suggests that epimutations on chromosome 11p15 can be most efficiently detected in RSS patients by screening for DNA methylation defects at the H19 promoter or the distal region of ICR... - Expanded repeat in canine epilepsyHannes Lohi
The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Science 307:81. 2005..Clinicopathologic characterization establishes affected animals as a model for Lafora disease, the most severe teenage-onset human epilepsy... - Copy number variations and risk for schizophrenia in 22q11.2 deletion syndromeAnne S Bassett
Clinical Genetics Research Program, Centre for Addiction and Mental Health, 1001 Queen Street West, Toronto, Ontario M6J 1H4, Canada
Hum Mol Genet 17:4045-53. 2008..2DS. The results reinforce the need for further efforts to identify specific molecular mechanisms underlying this expression and to identify the 1% of patients with schizophrenia who carry 22q11.2 deletions... - Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophyKazuhiko Nakabayashi
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON, Canada
Am J Hum Genet 76:510-6. 2005..Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair... - Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsyDanielle M Andrade
Division of Neurology, Krembil Neuroscience Centre, University of Toronto, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada
Pediatr Neurol 47:205-8. 2012..This work also exemplifies the potentiality of next-generation sequencing in the genetic identification and diagnosis of patients with neurologic diseases of unknown cause... - A discovery resource of rare copy number variations in individuals with autism spectrum disorderAparna Prasad
The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto M5G 1L7, Canada
G3 (Bethesda) 2:1665-85. 2012..g., DPYD, UPB1, UPP1, TYMP). Finally, this extensively phenotyped and genotyped ASD clinical cohort serves as an invaluable resource for the next step of genome sequencing for complete genetic variation detection... - Duplication and relocation of the functional DPY19L2 gene within low copy repeatsAndrew R Carson
Department of Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
BMC Genomics 7:45. 2006..Moreover, silencing of duplicate genes can have an indirect effect on adaptive evolution by causing genomic relocation of functional genes. These changes are theorized to have been a major factor in speciation... - Contemplating effects of genomic structural variationJanet A Buchanan
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
Genet Med 10:639-47. 2008..Interpreting genotypes for personalized health care and communicating knowledge to the individual will be significant challenges for genomics professionals... - Endothelial nitric-oxide synthase antisense (NOS3AS) gene encodes an autophagy-related protein (APG9-like2) highly expressed in trophoblastTakahiro Yamada
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
J Biol Chem 280:18283-90. 2005..Moreover, APG9L2 is a vertebrate-specific gene that may have gained critical roles in mammalian-specific developmental events, such as placentation, through rapid evolution... - Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxiaLars Feuk
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 79:965-72. 2006..Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development... - Characterization of the segmental duplication LCR7-20 in the human genomeXiangdong Liu
The Centre for Applied Genomics, Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Genomics 83:262-9. 2004..Our study also indicates that many genomic regions containing LCR7-20's either have been misassembled or are missing in current versions of the human genome sequence... - Sequence variants within exon 1 of MECP2 occur in females with mental retardationChris G Harvey
Molecular Neuropsychiatry and Development Lab, Neurogenetics Section, CAMH, University of Toronto, Ontario, Canada
Am J Med Genet B Neuropsychiatr Genet 144:355-60. 2007..We suggest some of these variants may be a relatively frequent cause of non-specific MR or developmental delay... - Euchromatic 9q13-q21 duplication variants are tandem segmental amplifications of sequence reciprocal to 9q13-q21 deletionsAnn M Joseph-George
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
J Med Genet 48:317-22. 2011..The molecular characterisation of three of these four variants has been reported. In this study, the genomic structure of the fourth variant, an additional G-positive band at 9q13-q21, is characterised... - Copy-number variation in control population cohortsDalila Pinto
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Hum Mol Genet 16:R168-73. 2007..We also discuss the need to expand surveys of CNV in different population-based cohorts and to apply the information to studies of human variation and disease... - Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genomeXavier Estivill
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, and Department of Molecular and Medical Genetics, University of Toronto, ON, Canada
Hum Mol Genet 11:1987-95. 2002.... - Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndromeAdam Shlien
Program in Genetics and Genome Biology, Departments of Medical Biophysics, Centre for Applied Genomics, and Division of Hematology Oncology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Proc Natl Acad Sci U S A 105:11264-9. 2008..Our results suggest that screening families predisposed to cancer for CNVs may identify individuals with an abnormally high number of these events... - Identification of germline genomic copy number variation in familial pancreatic cancerWigdan Al-Sukhni
Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada
Hum Genet 131:1481-94. 2012..Further investigation in high-risk subjects may elucidate the role of one or more of these genes in genetic predisposition to pancreatic cancer... - Severe intellectual disability and autistic features associated with microduplication 2q23.1Brian H Y Chung
Department of Pediatrics, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada
Eur J Hum Genet 20:398-403. 2012..This report provides the first detailed clinical examination of two individuals with a duplication of this region and suggests that brain development and cognitive function may be affected by an increased dosage of the genes involved... - Whole genome scanning: resolving clinical diagnosis and management amidst complex dataSarah E Ali-Khan
McLaughlin Rotman Centre for Global Health, University Health Network and University of Toronto, Toronto, Ontario M5G 1L7, Canada
Pediatr Res 66:357-63. 2009..We emphasize that addressing these issues now, and starting to evolve our healthcare systems in response, will be pivotal in avoiding harms and realizing the promise of these new technologies... - Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum DisorderBrian H Y Chung
Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada
Eur J Med Genet 54:e516-20. 2011..We propose that in addition to ID, the phenotypic spectrum associated with dup(X)(p11.22-p11.23) can include ASD, language impairment, and/or other primary psychiatric disorders... - Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected childrenStephen W Scherer
Genetics and Genomic Biology Program, Sick Kids Hospital, Toronto, ON, M5G 1X8, Canada
Hum Genet 117:383-8. 2005.... - The cycle of genome-directed medicineJanet A Buchanan
The Centre for Applied Genomics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
Genome Med 1:16. 2009..Medical infrastructure needs to adapt to the dramatic pace of technology development in the wake of the Human Genome Project, in order for genome data to be delivered as information and applied as knowledge to benefit health... - Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastomaPaul A Northcott
Division of Neurosurgery, Arthur and Sonia Labatt Brain Tumour Research Centre, Toronto, Ontario, Canada
Nat Genet 41:465-72. 2009.... - On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsiesHannes Lohi
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Adv Neurol 97:399-415. 2006 - Germ-line DNA copy number variation frequencies in a large North American populationGeorge Zogopoulos
Sam Minuk Cancer Genetics and Biomarker Laboratories, Fred Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Toronto, Canada
Hum Genet 122:345-53. 2007..This North American population-based map will be a useful resource for future genetic studies... - Structural variants: changing the landscape of chromosomes and design of disease studiesLars Feuk
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada
Hum Mol Genet 15:R57-66. 2006..All these progresses have set the stage for a golden era of combined microscopic and sub-microscopic (cytogenomic)-based research of chromosomes leading to a more complete understanding of the human genome... - Genescript: DNA sequence annotation pipelineAlexander K Hudek
Department of Genetics, The Hospital for Sick Children, Room 9107, Toronto, Ontario, M5G 1X8, Canada
Bioinformatics 19:1177-8. 2003..AVAILABILITY: Genescript is available for download from http:://tcag.bioinfo.sickkids.on.ca/genescript/.. - Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouseCatherine F Li
Program in Developmental Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
BMC Genomics 8:92. 2007..SAMD9 was recently found to be mutated in normophosphatemic familial tumoral calcinosis. In this study, we studied the gene structure and function of SAMD9, and its paralogous gene, SAMD9L, and examined these in a variety of species... - Mutation screening of X-chromosomal neuroligin genes: no mutations in 196 autism probandsJohn B Vincent
Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON, Canada
Am J Med Genet B Neuropsychiatr Genet 129:82-4. 2004..Our own study, screening a larger sample of 196 autism probands, failed to identify any mutations that would affect the coding regions of these genes. Our findings suggest that mutations in these two genes are infrequent in autism... - Rare deletions at the neurexin 3 locus in autism spectrum disorderAndrea K Vaags
Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Am J Hum Genet 90:133-41. 2012..Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses... - Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variantsDalila Pinto
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
Nat Biotechnol 29:512-20. 2011..The CNV resource presented here allows independent data evaluation and provides a means to benchmark new algorithms... - Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHDAnath C Lionel
The Centre for Applied Genomics and Program in Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
Sci Transl Med 3:95ra75. 2011..2 region) were also revealed. Our results provide support for a role for rare CNVs in ADHD risk and reinforce evidence for the existence of common underlying susceptibility genes for ADHD, ASD, and other neuropsychiatric disorders... - Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: the DCCT/EDIC Genetics StudyAndrew P Boright
Department of Medicine, University Health Network, University of Toronto, Toronto, Canada
Diabetes 54:1238-44. 2005..41 [0.22-0.78], P = 0.006). Our findings in the DCCT/EDIC cohort provide strong evidence that genetic variation at the ACE gene is associated with the development of nephropathy in patients with type 1 diabetes... - Identifying concerted evolution and gene conversion in mammalian gene pairs lasting over 100 million yearsAndrew R Carson
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada
BMC Evol Biol 9:156. 2009..To eliminate genes that have been conserved due to strong purifying selection, our analysis also required at least one intron to have retained high sequence similarity between paralogues... - Characterization of the differentially methylated region of the Impact gene that exhibits Glires-specific imprintingKohji Okamura
The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, MaRS Centre TMDT, 101 College Street, Toronto, Ontario M5G 1L7, Canada
Genome Biol 9:R160. 2008.... - Frequent appearance of novel protein-coding sequences by frameshift translationKohji Okamura
The Centre for Applied Genomics, Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada ON M5G 1L7
Genomics 88:690-7. 2006.... - Evolutionary implications of inversions that have caused intra-strand parity in DNAKohji Okamura
The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, MaRS Centre, Toronto, Ontario, Canada
BMC Genomics 8:160. 2007..Within each strand, the symmetry of single nucleotide composition extends even further, being demonstrated in the balance of di-, tri-, and multi-nucleotides with their respective complementary oligonucleotides... - Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouseF Shama Fernando
Department of Pharmacology, University of Oxford, Mansfield Road, Oxford OX1 3QT, UK
Gene 284:23-9. 2002..We have also determined the intron/exon structure of the gene, which will facilitate the screening of these exons for mutations in human neurodegenerative disorders... - Detection of chromosome abnormalities in leukemia using fluorescence in situ hybridizationLyndal Kearney
MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford, UK
Methods Mol Med 68:7-27. 2002 - Narrowing and genomic annotation of the commonly deleted region of the 5q- syndromeJacqueline Boultwood
Leukaemia Research Fund Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Science, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
Blood 99:4638-41. 2002..These data now afford a comprehensive mutational/expression analysis of all candidate genes assigned to the CDR... - Graft versus leukemia effect after haploidentical HSCT in a MLL-negative infant AML with HLXB9/ETV6 rearrangementJulia Hauer
Pediatric Hematology and Oncology, LMU Munich, Dr von Haunersches Children s Hospital, Munich, Germany
Pediatr Blood Cancer 50:921-3. 2008..This case reinforces the potential benefit of a graft-versus-leukemia effect in the haploidentical setting even in chemoresistant myeloid leukemias with poor-prognosis molecular features... - The radial arrangement of the human chromosome 7 in the lymphocyte cell nucleus is associated with chromosomal band gene densityConcetta Federico
Department Biologia Animale M La Greca, University of Catania, Catania, Italy
Chromosoma 117:399-410. 2008.... - Detection of Helicobacter spp. DNA in the oral cavity of dogsCamilla Recordati
Dipartimento di Patologia Animale, Igiene e Sanita Pubblica Veterinaria, Sezione di Anatomia Patologica Veterinaria e Patologia Aviare, Facolta di Medicina Veterinaria, Universita degli Studi di Milano, Milano, Italy
Vet Microbiol 119:346-51. 2007..These findings support the possibility of oral-oral transmission between dogs and that the canine oral cavity may act as source of non-pylori Helicobacter spp. infection for humans... - Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemiaSabrina Tosi
Leukaemia Research Fund Molecular Haematology Unit, Nuffield Department of Clinical Laboratory Science, John Radcliffe Hospital, Oxford, United Kingdom
Genes Chromosomes Cancer 44:225-32. 2005..This experiment resulted in the identification of a new fusion between NUP98 and C6orf80. Further studies will aim to fully characterize C6orf80 and will elucidate the role of this new NUP98 fusion in myeloid leukemia... - Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant leukemiaSabrina Tosi
MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, United Kingdom
Genes Chromosomes Cancer 38:191-200. 2003..These data show some heterogeneity in the distribution of breakpoints in 7q36, indicating that the generation of a fusion gene might not be the mechanism responsible for leukemogenesis in the t(7;12), at least in some cases...